An apparently silent nucleotide substitution (c.7056C>T) in the von willebr and factor gene is responsible for type 1 von willebr and disease

Haematologica

Volumn 96, Issue 6, 2011, Pages 884-887

  Daidone, Viviana ^a   Gallinaro, Lisa ^a   Cattini, Maria Grazia ^a   Pontara, Elena ^a   Bertomoro, Antonella ^a   Pagnan, Antonio ^a   Casonato, Alessandra ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

Splice site mutations; Synonymous nucleotide substitution; Type 1 VWD; Von willebrand disease; Von willebrand factor

Indexed keywords

MESSENGER RNA; VON WILLEBRAND FACTOR;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; IN VITRO STUDY; MUTANT; NUCLEIC ACID BASE SUBSTITUTION; PROTEIN BLOOD LEVEL; PROTEIN DOMAIN; PROTEIN SECRETION; RISK FACTOR; THROMBOCYTE; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR GENE; WILD TYPE; EXON; GENETICS; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POINT MUTATION; RNA SPLICING;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; EXONS; FEMALE; HUMANS; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POINT MUTATION; RNA SPLICING; VON WILLEBRAND DISEASE, TYPE 1; VON WILLEBRAND FACTOR;

EID: 79958047261     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2010.036848     Document Type: Article

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